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Items: 1 to 20 of 102

1.

Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.

Vollebregt AAM, Hoogeveen-Westerveld M, Kroos MA, Oussoren E, Plug I, Ruijter GJ, van der Ploeg AT, Pijnappel WWMP.

Dev Med Child Neurol. 2017 Oct;59(10):1063-1070. doi: 10.1111/dmcn.13467. Epub 2017 May 25.

2.

[Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeⅡ].

Li Y, Mei S, Kong X, Zhao Z, Zhu X, Yang X, Qin Z, Wu H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):58-60. doi: 10.3760/cma.j.issn.1003-9406.2017.01.013. Chinese.

PMID:
28186595
3.

Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.

Kosuga M, Mashima R, Hirakiyama A, Fuji N, Kumagai T, Seo JH, Nikaido M, Saito S, Ohno K, Sakuraba H, Okuyama T.

Mol Genet Metab. 2016 Jul;118(3):190-7. doi: 10.1016/j.ymgme.2016.05.003. Epub 2016 May 7.

PMID:
27246110
4.

Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.

Alcántara-Ortigoza MA, García-de Teresa B, González-Del Angel A, Berumen J, Guardado-Estrada M, Fernández-Hernández L, Navarrete-Martínez JI, Maza-Morales M, Rius-Domínguez R.

Clin Genet. 2016 May;89(5):574-83. doi: 10.1111/cge.12738. Epub 2016 Feb 9.

PMID:
26762690
5.

NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene.

Torres LC, Soares DC, Kulikowski LD, Franco JF, Kim CA.

Clin Immunol. 2014 Oct;154(2):100-4. doi: 10.1016/j.clim.2014.07.001. Epub 2014 Jul 16.

PMID:
25038527
6.

Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.

Chistiakov DA, Kuzenkova LM, Savost'anov KV, Gevorkyan AK, Pushkov AA, Nikitin AG, Vashakmadze ND, Zhurkova NV, Podkletnova TV, Namazova-Baranova LS, Baranov AA.

J Genet Genomics. 2014 Apr 20;41(4):197-203. doi: 10.1016/j.jgg.2014.01.007. Epub 2014 Feb 4.

PMID:
24780617
7.

Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.

Brusius-Facchin AC, Schwartz IV, Zimmer C, Ribeiro MG, Acosta AX, Horovitz D, Monlleó IL, Fontes MI, Fett-Conte A, Sobrinho RP, Duarte AR, Boy R, Mabe P, Ascurra M, de Michelena M, Tylee KL, Besley GT, Garreton MC, Giugliani R, Leistner-Segal S.

Mol Genet Metab. 2014 Feb;111(2):133-8. doi: 10.1016/j.ymgme.2013.08.011. Epub 2013 Sep 1.

PMID:
24125893
8.

A 3' splice site mutation of IDS gene in a Chinese family with mucopolysaccharidosis type II.

Jin P, Hao JW, Chen K, Dong CS, Yang YB, Mo ZH.

Gene. 2013 Oct 10;528(2):236-40. doi: 10.1016/j.gene.2013.06.084. Epub 2013 Jul 16.

PMID:
23867855
9.

Decreasing activity and altered protein processing of human iduronate-2-sulfatase mutations demonstrated by expression in COS7 cells.

Charoenwattanasatien R, Cairns JR, Keeratichamroen S, Sawangareetrakul P, Tanpaiboon P, Wattanasirichaigoon D, Pangkanon S, Svasti J, Champattanachai V.

Biochem Genet. 2012 Dec;50(11-12):990-7. doi: 10.1007/s10528-012-9538-9. Epub 2012 Sep 19. No abstract available.

PMID:
22990955
10.

A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II.

Li XY, Shi XY, Ju J, Hu XH, Yang XF, Zou LP.

World J Pediatr. 2012 Aug;8(3):281-3. doi: 10.1007/s12519-012-0357-1. Epub 2012 May 23.

PMID:
22622771
11.

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.

Brusius-Facchin AC, De Souza CF, Schwartz IV, Riegel M, Melaragno MI, Correia P, Moraes LM, Llerena J Jr, Giugliani R, Leistner-Segal S.

Am J Med Genet A. 2012 May;158A(5):1055-9. doi: 10.1002/ajmg.a.35271. Epub 2012 Apr 10.

PMID:
22492741
12.

Hunter syndrome (Muccopolysaccharridosis Type II) in Macedonia and Bulgaria.

Gucev ZS, Tasic V, Sinigerska I, Kremensky I, Tincheva R, Pop-Jordanova N, Danilovski D, Hofer D, Paschke E.

Prilozi. 2011;32(2):187-98.

PMID:
22286622
13.

A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.

Sohn YB, Kim SJ, Park SW, Park HD, Ki CS, Kim CH, Huh SW, Yeau S, Paik KH, Jin DK.

Am J Med Genet A. 2010 Dec;152A(12):3129-32. doi: 10.1002/ajmg.a.33589.

PMID:
21108396
14.

Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders.

Kloska A, Jakóbkiewicz-Banecka J, Tylki-Szymańska A, Czartoryska B, Węgrzyn G.

Clin Genet. 2011 Nov;80(5):459-65. doi: 10.1111/j.1399-0004.2010.01574.x. Epub 2010 Nov 10.

PMID:
21062272
15.

Mucopolysaccharidosis Type II.

Scarpa M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 Nov 6 [updated 2018 Oct 4].

16.

Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome.

Lualdi S, Tappino B, Di Duca M, Dardis A, Anderson CJ, Biassoni R, Thompson PW, Corsolini F, Di Rocco M, Bembi B, Regis S, Cooper DN, Filocamo M.

Hum Mutat. 2010 Apr;31(4):E1261-85. doi: 10.1002/humu.21208.

PMID:
20104590
17.

[Identification of a novel mutation of IDS gene from a Chinese pedigree with MPS II].

GUO YB, PAN HD, GUO CM, LI YM, CHEN LM.

Yi Chuan. 2009 Nov;31(11):1101-6. Chinese.

PMID:
19933090
18.

Role of iduronate-2-sulfatase in glucose-stimulated insulin secretion by activation of exocytosis.

Piquer S, Casas S, Quesada I, Nadal A, Julià M, Novials A, Gomis R.

Am J Physiol Endocrinol Metab. 2009 Sep;297(3):E793-801. doi: 10.1152/ajpendo.90878.2008. Epub 2009 Jul 14.

19.

A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings.

Farooq MU, Balmer SV, DeRoos ST, Houtman KL, Chillag KL.

Mov Disord. 2008 Jul 30;23(10):1487-8. doi: 10.1002/mds.22145. No abstract available.

PMID:
18546295
20.

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